HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the thyroid hormone receptor alpha gene.
|
22168587 |
2012 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.
|
24969835 |
2014 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical phenotype and mutant TRα1.
|
22494134 |
2012 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
|
25670821 |
2015 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
|
27144938 |
2016 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.
|
26037512 |
2015 |
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Only recently have mutations in the thyroid hormone receptor α gene (THRA) been identified causing a new form of RTH, RTHα.
|
25231448 |
2014 |
Generalized Thyroid Hormone Resistance
|
0.400 |
Biomarker
|
disease |
BEFREE |
To investigate the biological functions of the c-erbA genes, c-erbA alpha and c-erbA beta, we tested the hypothesis that an abnormal c-erbA gene product is present in GTHR by examining these genes in members of one kindred.
|
2905763 |
1988 |
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Dominant-negative mutations of TRα cause resistance to thyroid hormone alpha (RTHα; OMIM 614450), characterized by excessive repression of T3 target genes leading to delayed skeletal development, growth retardation, and bone dysplasia.
|
30760120 |
2019 |
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, the first patients with resistance to thyroid hormone alpha (RTHα) due to inactivating mutations in the thyroid hormone receptor alpha (TRα) were identified.
|
26782358 |
2016 |
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A severe phenotype characteristic of hypothyroidism occurs in children with resistance to thyroid hormone due to mutations affecting THRA encoding thyroid hormone receptor α (TRα).
|
28853052 |
2018 |
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Resistance to thyroid hormone due to THRA mutations (RTHα) is a recently discovered genetic disease, displaying important variability in its clinical presentation.
|
29205102 |
2018 |
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor.
|
8954015 |
1996 |
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.
|
26037512 |
2015 |
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in the thyroid hormone receptor alpha (THRA) gene cause resistance to thyroid hormone alpha (RTHα), a disease characterized by variable manifestations reminiscent of untreated congenital hypothyroidism but a raised triiodothyronine/thyroxine ratio and normal thyrotropin levels.
|
27809680 |
2017 |
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Indeed, the recent discovery of a number of human patients carrying heterozygous mutations in the THRA gene (RTHα) revealed a distinct phenotype that was not observed in RTH patients with THRB gene mutations (RTHβ).
|
30595106 |
2019 |
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins.
|
28471274 |
2017 |
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hippocampal Transcriptome Profile of Persistent Memory Rescue in a Mouse Model of THRA1 Mutation-Mediated Resistance to Thyroid Hormone.
|
26743578 |
2016 |
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance.
|
30747412 |
2019 |
Generalized Thyroid Hormone Resistance
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
|
27144938 |
2016 |
Generalized Thyroid Hormone Resistance
|
0.400 |
Biomarker
|
disease |
BEFREE |
Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis.
|
28911146 |
2017 |
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A dominant negative interaction is known to occur between thyroid hormone receptors (TRs) and the non-ligand binding splicing variant c-erbA alpha 2 as well as mutant TR beta 1 from kindreds with resistance to thyroid hormone.
|
7796935 |
1995 |
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Scope of this review: This review describes the clinical and biochemical characteristics of patients with resistance to thyroid hormone alpha (RTHα) due to heterozygous mutations in THRA.
|
28527577 |
2017 |